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Correspondence on “De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females” by Polla et al.

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Data availability

The authors confirm that all data underlying the findings are fully available without restriction by request. All relevant data are within the paper and its Supporting Information files. All four MED12 variants were submitted to LOVD-MED12 database (https://databases.lovd.nl/shared/genes/MED12).

References

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Acknowledgements

We thank Nicole Philip for critical reading of the manuscript. This work was generated within the European Reference Network for Rare Neurological Diseases.

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Correspondence to Svetlana Gorokhova.

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The data on MED12 variants do not include any identifying information. These data correspond to retrospective analysis that does not require ethics committee approval at our institution. The appropriate consent was collected from each patient.

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The authors declare no competing interests.

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“Novel missense variants in MED12 expand the mutational spectrum of MED12-related syndrome in females” Riccardi et al.

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Riccardi, F., Astier, A., Grisval, M. et al. Correspondence on “De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females” by Polla et al.. Genet Med (2021). https://doi.org/10.1038/s41436-021-01208-8

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